ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825332100
Gene: GCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019241.1:p.Pro69Leu
CA211433
NM_001024070.2:c.206C>T